Evidence Based This post has 28 references

Genetics of Erythropoiesis (Red Blood Cell Creation)

Written by Joe Cohen, BS | Last updated:

A mutation in the JAK2 gene is the major cause of Polycythemia Vera or an increased number of red blood cells [1].


GATA1 (GATA binding protein 1 or globin transcription factor 1) is essential for normal red blood cell production (erythropoiesis) [2, 3, 4].

The GATA1 regulates the growth, division, and survival of immature red blood cells and platelets [5, 6, 7].

Mutations in GATA1 cause anemias and thrombocytopenia in human patients [8, 9].

Mutations in this gene are present in almost all cases of acute leukemia associated with Down’s syndrome.


ZFPM1 gene (Zinc finger protein) is also known as FOG1 (friend of GATA1).

ZFPM1 plays an essential role in red blood cell production. Interaction of ZFPM1 with GATA1 is essential for the function of GATA1 in red blood cell growth [10].

STIL (SCL/TAL1 interrupting locus)

STIL plays an essential role in red blood cell production [11, 12, 13].

EKLF1 (Erythroid Kruppel-like Factor 1)

EKLF1 is a gene that is necessary for the proper maturation of red blood cells [14].

EKLF participates in the production of adult globin chains [15].

Mutations in this gene are associated with anemia, β-thalassemia, hereditary persistence of fetal hemoglobin (HPFH), and rare In (Lu) blood group [16, 17, 18, 19, 20].


Erythropoietin (EPO) and its receptor (EPOR) stimulate red blood cell growth and cell division in the bone marrow and the initiation of hemoglobin production [21, 22, 23, 24].

The T allele of SNP rs1617640 in the promoter of the EPO gene is associated with diabetic eye and kidney complications [25].


EPOR (Erythropoietin receptor gene) promotes the proliferation of immature red blood cells and survival [26].

Defects in the EPOR may produce erythroleukemia and familial erythrocytosis (an inherited condition characterized by an increased number of red blood cells and an elevated risk of abnormal blood clots) [27, 28].

About the Author

Joe Cohen, BS

Joe Cohen, BS

Joe Cohen flipped the script on conventional and alternative medicine…and it worked. Growing up, he suffered from inflammation, brain fog, fatigue, digestive problems, insomnia, anxiety, and other issues that were poorly understood in traditional healthcare. Frustrated by the lack of good information and tools, Joe decided to embark on a learning journey to decode his DNA and track his biomarkers in search of better health. Through this personalized approach, he discovered his genetic weaknesses and was able to optimize his health 10X better than he ever thought was possible. Based on his own health success, he went on to found SelfDecode, the world’s first direct-to-consumer DNA analyzer & precision health tool that utilizes AI-driven polygenic risk scoring to produce accurate insights and health recommendations. Today, SelfDecode has helped over 100,000 people understand how to get healthier using their DNA and labs.
Joe is a thriving entrepreneur, with a mission of empowering people to take advantage of the precision health revolution and uncover insights from their DNA and biomarkers so that we can all feel great all of the time.


1 Star2 Stars3 Stars4 Stars5 Stars
(1 votes, average: 1.00 out of 5)

FDA Compliance

The information on this website has not been evaluated by the Food & Drug Administration or any other medical body. We do not aim to diagnose, treat, cure or prevent any illness or disease. Information is shared for educational purposes only. You must consult your doctor before acting on any content on this website, especially if you are pregnant, nursing, taking medication, or have a medical condition.

Leave a Reply

Your email address will not be published. Required fields are marked *

Related Articles View All